ENSG00000165078
Homo sapiens | |
Features
| Gene ID: | ENSG00000165078 | | | | | Biological name : | CPA6 | | | | | Synonyms : | carboxypeptidase A6 / CPA6 / Q8N4T0 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 8 | | Strand: | -1 | | Band: | q13.2 | | Gene start: | 67422038 | | Gene end: | 67746385 | | | | | Corresponding Affymetrix probe sets: | 1552511_a_at (Human Genome U133 Plus 2.0 Array) 224028_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000297770
Ensembl peptide - ENSP00000419016
Ensembl peptide - ENSP00000491129
NCBI entrez gene - 57094
See in Manteia.
OMIM - 609562
RefSeq - XM_017013646
RefSeq - NM_020361
RefSeq - XM_011517570
RefSeq Peptide - NP_065094
swissprot - Q8N4T0
Ensembl - ENSG00000165078
| | | | | Related genetic diseases (OMIM): | 614417 - Epilepsy, familial temporal lobe, 5, 614417 | | | 614418 - Febrile seizures, familial, 11, 614418 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0002069 | Generalized tonic-clonic seizures | "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators] |
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| | HP:0002373 | Febrile seizures | "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
0 s.
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